HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52028019_52028020del , CM000666.2:g.52028019_52028020del | GRCh38 |
NC_000004.11:g.52894185_52894186del , CM000666.1:g.52894185_52894186del | GRCh37 |
NC_000004.10:g.52588942_52588943del | NCBI36 |
NG_008891.1:g.15300_15301del , LRG_204:g.15300_15301del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.701_702del MANE Select | ENSP00000370839.6:p.Ile234AsnfsTer6 | |
ENST00000381431.9:c.701_702del | ENSP00000370839.5:p.Ile234AsnfsTer6 | |
NM_000232.4:c.701_702del , LRG_204t1:c.701_702del | NP_000223.1:p.Ile234AsnfsTer6 | |
XM_006714049.2:c.404_405del | XP_006714112.1:p.Ile135AsnfsTer6 | |
XM_011534403.1:c.491_492del | XP_011532705.1:p.Ile164AsnfsTer6 | |
XM_011534404.1:c.404_405del | XP_011532706.1:p.Ile135AsnfsTer6 | |
NM_000232.5:c.701_702del MANE Select | NP_000223.1:p.Ile234AsnfsTer6 |